Autoszomális recesszív
Caused by changes in both copies of PCYT1A, an enzyme needed to make phosphatidylcholine, a major component of cell membranes. Each parent usually carries one changed copy.
Tünetek és jelek
Short stature with bowed legs and changes to the spine and growing ends of the bones are characteristic. Cone-rod dystrophy causes visual impairment.
Mit változtat a diagnózis
Orthopaedic monitoring and treatment of leg bowing, with regular eye reviews, low-vision aids and educational support. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
Más néven
SMD-CRD; SMDCRD
